Method for increasing utilization of genetic testing

ABSTRACT

This invention describes a method and site for providing genetic testing using the Internet which enables individuals to access genetic testing as well as methods that ensure privacy in the selection of genetic tests, payment, performance of tests, delivery of results, interpretation of results, and genetic counseling. These methods will increase the utilization of genetic testing by individuals.

CROSS REFERENCE TO RELATED APPLICATIONS

This application claims the benefit of the filing date of provisionalapplication, U.S. Ser. No. 60/146,742 filed Aug. 2, 1999.

BACKGROUND OF THE INVENTION

In general, this invention concerns the use of the Internet or worldwide web to provide genetic testing. This invention describes a site andmethods which singularly or together provide genetic testing includingmethods for using the Internet or world wide web to provide individualswith access to genetic testing and methods that ensure privacy in theselection of genetic tests, payment, performance of tests, delivery ofresults, interpretation of results, and genetic counseling. Thesemethods will increase the utilization of genetic testing by individuals.

The following information is provided to assist the understanding of thereader, none of that information is admitted to be prior art to thepresent invention.

The human genome project is expected to identify approximately 100,000different genes within the human genome. The sequences of these genesand the expression of the RNA and protein encoded by these genes arecritical determinants of individual development, health, and disease.Variations in the sequences of these genes and in the characteristics ofthe products expressed from these genes underlies many aspects of humanindividuality including physical and mental characteristics, growth,longevity, health, and disease.

The terms “genetic test” or “genetic testing” refer to the analysis ofDNA, RNA, or protein in a sample from an individual which determines,without limitation, the sequence of one, or more than one, gene withinthe sample, the presence or absence of one, or more than one, geneticmarker, variance, mutation, polymorphism, or microsatellite sequenceassociated with a gene, the presence of one, or more than one, viralsequence, viral-like sequence, or repetitive sequence, a haplotypespanning one, or more than one, gene, the number of copies of one, ormore than one, gene, the amount or characteristics of RNA or proteinexpressed from one, or more than one, gene, the arrangement of geneswithin the genome, the chromosome number, or integrity of chromosomes.This invention specifically concerns genetic tests useful in medicinefor diagnosing genetic disease, determining an individual's propensityto multifactorial diseases, and predicting an individual's response totherapeutic drugs. Genetic tests have been developed for many inheriteddiseases including, but not limited to, Huntington's Disease, CysticFibrosis, and Phenyketonuria. Genetic tests have also been developed forgenes that predispose to diseases including, but not limited to,atherosclerosis, heart failure, stroke, anemia, cancer, clottingdisorders, dementia, endocrine diseases, and pulmonary diseases. Genetictests have also been described which predict the pharmacokinetic andpharmacodynamic characteristics of many drugs including, but not limitedto, drugs for the treatment of elevated cholesterol, drugs to treatcancer, drugs to reduce hypertension, and drugs to treat dementia.

New genetic tests are being discovered at a rapid rate due to continuingprogress of the human genome project and clinical research using genomictools. Genetic tests are likely to have a dramatic impact on health anddisease, enabling predisposition testing and interventions to preventdisease before morbidity is apparent, providing early diagnosis andtherapy, and optimizing pharmacological interventions with drugs thatare likely to be safe and effective for an individual. The discovery anddevelopment of a genetic test is commonly described in scientific andmedical journals and textbooks of medicine, genetics or clinicalpathology, and the existence and utility of such tests is commonly knownto one skilled in the art. Many genetic tests are known in the art andare described in reference books such as Scriver et al., The MolecularBasis of Inherited Disease, McGraw Hill or McKusick's MendelianInheritance in Man. Many genetic tests are described on the internet atsites such as www.genetests.org or many academic, sites, commercialsites, or sites dedicated to specific disease entities by non-profit,patient support groups.

The internet or world wide web is also likely to have a dramatic impacton healthcare. The term “e-health” refers to sites on the Internet thatprovide medical information, products, or services to individuals or tohealth care providers. More than 30% of all adults, and more than 70% ofInternet users, visited e-health sites on the Internet in 1999. The term“site” refers to the software and hardware accessible through a URL(Universal Record Locator) or address on the Internet or world wide weband includes, without limitation, the concept, design, construction,appearance, organization, function, and content of materials posted andaccessed at that URL. Current e-health sites focus on providing medicalinformation and the sale of drugs, materials, equipment, or otherproducts commonly available through healthcare providers or pharmacies.

Kits which enable individuals to perform home certain diagnostic testsincluding tests for pregnancy, glucose (diabetes), and blood clottingtimes are available through e-health sites or through healthcareproviders or pharmacies. Kits for HIV (AIDS) testing have also beendeveloped.

The utilization of genetic tests and the interpretation of genetic testsis significantly more complex than conventional diagnostic testingeither by healthcare providers or using kits for home testing. First,the number of potential tests arising from human genomics is very largecompared to the number of conventional diagnostic tests commonlyperformed. The genome project is expected to reveal 10,000-100,000 genesthat may be analyzed by genetic tests, and each gene may contain manydifferent genetic variations. Second, the use of genetic tests requiresinterpretation of the results and genetic counseling unlike conventionaltesting where the results are easily interpretable by comparing theamount of a product or level of activity relative to a normal range.Finally, informed consent and genetic counseling is often required forgenetic tests, and often mandated by law, to assist individuals in theuse of genetic information. This invention provides methods that enableselection of an appropriate genetic test and provides for theinterpretation of results and genetic counseling by an individual. Theterm “providing genetic testing” refers to the process of procuring asample to be tested, selecting a genetic test or test from among themany genetic tests that are developed, and reporting rest results.Providing genetic testing may include the additional steps ofinterpreting test results, providing genetic counseling (whennecessary), or combining genetic test results with other medicalinformation. This invention describes a method for providing genetictesting that enables individuals to utilize genetic tests in personalhealthcare and lifestyle decisions.

Despite the potentially great impact of genetic tests on health care,the utilization of genetic tests is currently very limited. It should berecognized that, to date, only a fraction of the genes in the genomehave been characterized, and only a small subset of variations that arepredictive of disease or its response to therapy have been described.Nevertheless, it would be advantageous to develop methods for makingthese tests available to individuals who may realize personal benefitfrom predicting, preventing, or treating disease, and that these methodswould have general applicability in enhancing the utilization of genetictests and their potential impact on medical care as the number of testsincreases over the next decades.

In current practice, genetic testing is controlled by health careproviders such as physicians, practitioners specialized in genetics suchas M.D., Ph.D., or M.A. trained geneticists or genetic counselors, andpractitioners specializing in the care of individuals with disabilitiesor inherited genetic diseases. Genetic testing generally requires areferral from a health care provider. Samples are generally obtained bythe health care provider or a central blood drawing service of ahospital or health care clinic, and samples are commonly sent to genetictesting services, often referred to as reference laboratories, such asGenzyme Genetics (www.genzyme.com), Quest Diagnostics(www.questdiagnostic.com), Gene Screen (www.genescreen.com), or othersfor testing. Genetic tests are also performed in hospital or academiclaboratories. The selection of a genetic test is generally accessibleonly by health care providers and is generally not accessible toindividuals. The present invention provides a method and enablingcapabilities that are not anticipated by current practice in whichhealth care providers have the central role in the process of selectinggenetic tests, receiving the results, interpreting the results, andgenetic counseling.

The methods described in this invention enable genetic testing to becontrolled by the individual. These methods empower the individualwithout referrals to health care providers by providing the individualwith access to genetic testing via the Internet or world wide web. Thesemethods replace the need to obtain samples through a hospital or healthcare clinical with the ability of individuals to provide samples ontheir own. These methods provide individuals with access to theinformation required to select tests and the ability to select testsperformed by genetic testing services or reference laboratories andprovide for the results of these tests to be reported directly to theindividual. These methods also provide the individual with theinformation required to interpret the tests and information for geneticcounseling. Most important, the methods that are described will providea high degree of privacy and minimize the risk of compromising theconfidentiality of the individual, their decision to seek genetictesting, and the results.

Information concerning the availability of genetic testing and itsutilization is commonly advertised only to health care providers and isgenerally not accessible to individuals. In addition, the results ofgenetic tests are commonly reported directly to the health care providerproviding the referral. The interpretation of a genetic test isgenerally performed by a health care provider who has specializedtraining in genetics and is trained in how to interpret the results of agenetic test and provide genetic counseling. Patient support groupsspecializing in certain disorders or classes of disorders are often animportant source of information concerning the interpretation of testresults. These organizations generally do not provide testing directly,but require that individuals work through health care providers. Thepresent invention provides a method that is not anticipated by the useof the Internet of world wide web by these organizations which provideinformation about specific diseases. The present invention providesintegration of a diverse set of services required to select genetictests to interpret the results, provide genetic counseling, store anddistribute samples for genetic tests, and pay for tests while providingprotection for individual privacy.

One of the major limitations of current practice is that it provideslittle privacy to individuals who may be concerned that the results ofthe genetic test could be used to discriminate against them and providesmany risks to confidentiality due to the number of different people andservices that are involved. Every interaction with a different healthcare provider and every medical record that contains information ongenetic tests and the results of genetic tests is a potential risk tothe individual's privacy. Integrating the services necessary for genetictesting, and providing these services directly to the individual,reduces these risks and will increase the utilization of genetictesting.

There are several reasons that genetic testing remains underutilized:

Limited individual demand for genetic tests. Information about genetictesting and its applications to improve medical care is complex and notwidely available to individuals. Many health care providers have littlebackground in genetics and are not able to provide individuals withinformation on tests that may be available and how they may benefitindividual care. The ability to select genetic tests for individuals isgenerally restricted to a limited number of health care professionalswho have the sufficient information to make such selection.

Certain genetic tests which identify an untreatable condition are oftenconsidered to have little clinical utility in the opinion of a healthcare provider and are often not offered to individuals. Nevertheless,many individuals are interested in having such genetic tests, even ifthey do not lead to therapy, simply to know whether they do, or do not,have a risk factor for a particular disease. This may lead to changes inlifestyle that may have a positive impact on the individual, theirquality of life, their ability to utilize supportive resources, andtheir families. Information on the utility of genetic tests whichenables individuals to select tests that are in their interest willincrease utilization of genetic tests.

Concern about privacy and discrimination. There is profound concernabout the potential misuse of genetic information to discriminateagainst individuals who may have specific genetic variances. There isparticular concern that individuals with specific genes or variant formsof genes may be discriminated in terms of access to health care, thecost of health care, employment, insurance (life, disability, health,etc.), and in social interactions. The legacy of eugenics, persistentracism, and popular perceptions concerning genetic and ethnicdifferences among individuals heightens concern that genetic informationabout individuals will be used for discrimination. There is an extensiveliterature on the importance of maintaining the privacy andconfidentiality of genetic records to prevent such abuse, and lawsdesigned to ensure the privacy of genetic records and prohibitdiscrimination are now widespread. Nevertheless, individual concern thatthe results of genetic tests may be misused by health care providers,insurers, employers, or even the government continues to limit theutilization of many genetic tests. Concern about privacy anddiscrimination is probably the single most important factor limiting theutilization of genetic tests today.

Poor access through health care providers. Health care providersfrequently have little experience with genetic testing and many clinicallaboratories may be unfamiliar with the procedures for procuring agenetic test and properly processing samples such that a test can beperformed. This lack of information and experience represents a furtherbarrier to making genetic testing widely available to individuals.

Segmented testing capabilities among many different genetic testingservices or reference laboratories. Genetic testing is provided by alimited number of genetic testing service providers. Many genetic testsare proprietary, meaning that one or more genetic testing services havea license which allows them to perform certain tests, while othergenetic testing services are prohibited from performing such tests. As aresult, it is sometimes necessary to obtain multiple samples and sendthe different samples to different genetic testing services to perform acomplete series of genetic tests. This added complexity representsanother significant barrier to making genetic testing widely availableto individuals.

Inadequate genetic knowledge to interpret the results of genetic testsand provide counseling. Genetic counseling is a critical element ofgenetic testing. Few health care providers or individuals havesufficient knowledge to interpret the results of a genetic test andperform genetic counseling. The need for genetic counseling inconjunction with genetic testing is mandated by law in certainjurisdictions. The inability of many health care providers to providesuch counseling is another impediment to the widespread use of genetictesting, limiting the likelihood both that a physician will recommend atest and that the individual will realize the potential benefits fromthe test.

Public policy. Public policy regarding genetic testing is guided by thedual goals of using genomic information as a means for improving healthand the treatment of disease, and real concern about the potentialabuses of genetic information. Laws have been enacted in manyjurisdictions to protect individuals against such abuses. These lawsvariously set standards for protecting the confidentiality of geneticrecords, set limits on the use of genetic information, and requiregenetic counseling to be provided in conjunction with genetic testing.In some cases, the added complexity of compliance, and potentialpenalties for noncompliance, with laws governing the privacy of medicalrecords containing genetic information is a further impediment to theutilization of genetic testing.

Recognizing that it would be advantageous to improve the utilization ofgenetic testing, the inventor has developed methods which address thelimitations listed above. These methods include:

Offer tests with information about their clinical utility toindividuals. A method for increasing utilization of genetic testing isto make information concerning tests and their clinical utility directlyavailable to individuals.

Direct marketing to individuals through world wide web. A method forincreasing utilization of genetic testing is to market genetic testsdirectly to individuals by the Internet and world wide web. Withindividuals increasingly turning to the Internet for information onmedical care and medical services, a web site that directly providesindividuals with high quality information about genetic tests and theability to select tests directly without the intermediation of healthcare providers or referrals from health care providers will increase theutilization of genetic testing.

Ensure privacy of all tests and results. A method for increasingutilization of genetic testing is to eliminate or minimize the need forintermediation by health care providers and provide individuals withdirect access to genetic tests. Specifically, the method enables allaspects of genetic testing including the provision of information aboutthe availability and utility of tests, selection of a test, procurementof samples for testing, processing of the test sample, payment for thetest, and reporting of test results, interpretation of the test results,and counseling to be provided through direct and private communicationswith the individuals via the Internet. This method also includesstrategies for collecting, storing, and distributing samples for genetictests that protect patient privacy. Elements of this method include two,or more than two, of the following: (i) collecting a sample directlyfrom individuals that can be used for one, or more than one, genetictest; (ii) encoding the samples with a private code and sending samplesto genetic testing services for testing identified only by this code;(iii) enabling individuals to access information concerning genetictests and select genetic tests through a web site protected by apassword or private code; (iv) enabling individuals to pay directly forgenetic tests without involvement of healthcare providers, managed careorganizations, or third party payers; (v) providing the results ofgenetic tests directly to individuals ensuring privacy through the useof a password or private code; (vi) providing individuals withsufficient information to interpret the results of the genetic test andfor genetic counseling through a web site protected with a password orprivate code. Methods for private communications via the Internet, worldwide web, or alternate media including without limitation mail, fax,interactive television, or telephone, including financial transactionsand the transmission of confidential information are known in the art.

An important aspect of this method is that privacy is significantlyenhanced by eliminating or minimizing the role of health care providers,third-party payers, and others in procuring samples, ordering tests,payment, interpretation of results, reporting of results, geneticcounseling, and reimbursement. It may be recognized that individuals maychoose to make genetic information available to health care providers ormay choose to accept reimbursement from third-party payers for the costof such tests, and that such choices may limit the privacy provided bythe methods described in this invention.

Provide individuals with direct access to information required to selecttests. A method is described for providing individuals with access tohigh quality information about genetic tests, the ability to selectgenetic tests, direct reporting of test results, information required tointerpret the test results, information for genetic counseling, andreferrals for genetic counseling without the intermediary role of thehealth care provider. This method is an important departure from currentmethods for providing information to individuals and procuring genetictests which currently requires intermediation by one or more health careproviders.

Provide storage of samples and sample distribution for testing. A methodfor increasing the utilization of genetic testing is to provide aresource for storing samples that can be used for a series of genetictests selected by the individual over time and distributing aliquots ofthis sample to genetic testing providers when tests are selected by theindividual. Samples are preferably collected directly by the individualor may be collected by a health care provider at the direction of theindividual. Samples can be collected by a variety of methods known inthe art and may include blood, tissue scrapings, hair, or bodily fluidsor secretions. It will be recognized that samples for genetic testingcan be stable for many years and can be used repeatedly as a source ofmaterials for genetic tests. The method involves establishing centralfacilities for storing samples identified only by a private code. When atest is ordered by an individual providing a password or private codethat matches the sample, an aliquot of the stored sample is distributedto the appropriate genetic testing service identified only by a privatecode for genetic testing. Many aliquots can be taken from a singlesample, and aliquots can be sent to several different genetic testingservices which offer different proprietary tests or perform multipletests at different times without the need for the individual to providemultiple samples.

One of the simple but important benefits of this invention is that bystoring samples for genetic tests, it will be possible to performmultiple tests over a period of months to years without the need toobtain additional samples. This is possible because the fundamentalgenetic material of the individual does not change significantly overtime. It will be recognized that the need to obtain a sample, by, forexample, having blood drawn, is unpleasant and, in itself, an impedimentto genetic testing. Thus, the storage of a sample that may be used forgenetic testing makes it easier for an individual to choose to utilizegenetic testing.

It is recognized that the Internet and world wide web are recognized asa means for ordering many different products and services anddisseminating information about companies and their products. Manygenetic testing services currently maintain sites on the world wide webwhich describe the company's business and the services they provide.Some provide information of a general nature of links to other siteswith genetic information. The present invention provides a method thatis not anticipated by these established uses of the Internet and worldwide web, namely the integration of two, or more than two, of thefollowing steps in genetic testing including selection, reporting ofresults, interpretation and counseling together with the storage ofsamples for genetic tests, mechanisms to procure tests from variousproviders and distribute samples for testing, and mechanisms to protectindividual privacy.

Provide source of high quality information. The method involves theprovision of high quality information to aid the selection of tests aswell as the interpretation of the results of genetic tests and geneticcounseling. The method involves creation of a set of information whichcan be accessed by individuals via the world wide web or other media.This information may comprise, but is not limited to, text in books,pamphlets or electronic format, video, audio, or interactive computersystems. This information can be ordered by individuals through theInternet using a password protected web site to preserveconfidentiality. This method will provide superior genetic counseling tothat available from many health care providers and satisfy mandatedrequirements for providing such counseling. This will also allowindividuals to access information at an appropriate level of complexityand detail without involving additional health care providers or payersthat represent a risk to privacy. Most important, the quality of thisinformation can be controlled in a way that is not possible whencounseling is provided by a health care provider who may not have indepth training in either genetics or the process of genetic counseling.

It is also recognized that a great deal of information about geneticdisease, the genetic causes of disease, and genetics in general isavailable via Internet and the world wide web. Much of this informationis provided by sources that are not qualified to assist individuals inthe selection of genetic tests, interpretation of the results of genetictests or genetic counseling. In some cases, information available on theInternet and world wide web is not designed to provide quality geneticcare, but rather further political, scientific, or religious goals. Inmany cases there is misinformation available on the Internet and worldwide web. In other cases, the information on the Internet or world wideweb is of high quality and highly technical (for example Genbank,on-line medical and scientific publications, Medline, genetests.org) andis intended for use by professional scientists or health care providers,and is not suitable for use by many individuals. The present inventionprovides a service that is not anticipated by these established uses ofthe Internet and world wide web by providing high quality informationdesigned explicitly to be useful to an individual in the selection ofgenetic tests, interpretation of the results, and genetic counseling.

New testing paradigm for social acceptance. This method meets the dualsocietal goals of making the benefits of genetic information availableto individuals to improve health care while providing protection againstthe use of this information for discrimination. This method is alsodesigned to meet social and legal mandates for confidentiality andprivacy of genetic information and genetic counseling. This methoddramatically changes the focus of genetic testing from current methodsand those known in the art which require health care providers to serveas intermediaries in genetic testing. Eliminating the need forintermediation by health care providers by providing the individual withthe information and access necessary to select genetic tests and receiveand interpret the results represents a fundamentally new method forutilizing genetic testing. By providing the individual with control overgenetic testing and a maximum degree of privacy, societal concerns areaddressed to a level far greater than current practice.

Other features and advantages of the invention will be apparent from thefollowing description of the preferred embodiments and from the claims.

BRIEF SUMMARY OF THE INVENTION

This invention describes a method for providing genetic testingcomprising two, or more than two, of the steps of:

-   -   collecting and storing a sample;    -   posting a list of genetic tests and information concerning        genetic test;    -   selecting of a genetic test or tests from said list;    -   distributing an aliquot of said sample to a genetic testing        service to perform said genetic test or tests; and    -   posting the results of said tests in a manner that may be        accessed by an individual.    -   posting materials for interpreting the results of said test that        may be accessed by said individual;    -   posting materials for genetic counseling that may be accessed by        said individual;    -   posting a program to aid the individual in the selection of        genetic tests, interpreting the results of said test, or genetic        counseling that may be accessed by an individual.

In a preferred embodiment of this method, the selecting of a genetictest or tests is performed by an individual. In a preferred embodimentof this method, the collection of a sample is performed by anindividual.

In a preferred embodiment of the invention, two, or more than two, stepsare enabled in an integrated manner. In a preferred embodiment of theinvention, two or more than two steps are enabled in an integratedmanner through a site accessible via the Internet. In alternativeembodiments of the invention the method comprises more than seven, morethan five, or more than three steps performed in an integrated manner.

An object of this invention is a site which provides genetic testing toan individual by enabling two, or more than two, of the steps of:

-   -   collecting and storing a sample;    -   posting a list of genetic tests and information concerning        genetic tests;    -   selecting of a genetic test or tests from said list;    -   distributing an aliquot of said sample to a genetic testing        service to perform said genetic test or tests    -   posting the results of said tests in a manner that may be        accessed by said individual;    -   posting materials for interpreting the results of said test that        may be accessed by said individual; and    -   posting materials for genetic counseling that may be accessed by        said individual.    -   posting a program to aid the individual in the selection of        genetic tests, interpreting the results of said test, or genetic        counseling that may be accessed by said individual.

A preferred object of the invention is a site which enables theselecting of a genetic test or tests by an individual. A preferredobject of the invention is a site which enables the collecting of asample by an individual.

A specific objection of the invention is a site which enables two, ormore than two, steps to be performed in an integrated manner. Analternative objects of the invention is a site that enables more thanseven, more than five, or more than three of the steps enumerated aboveto be performed in an integrated manner.

The preferred embodiment of this invention is a method of providinggenetic testing in which an individual makes the selection of a genetictest or tests comprising one, or more than one, of the steps of:

-   -   collecting and storing a sample;    -   posting a list of genetic tests and information concerning        genetic tests that may be accessed by an individual;    -   distributing an aliquot of said sample to a genetic testing        service to perform said genetic test or tests; and    -   posting the results of said tests in a manner that may be        accessed by said individual.    -   posting materials for interpreting the results of said test that        may be accessed by said individual;    -   posting materials for genetic counseling that may be accessed by        said individual;    -   posting a program to aid the individual in the selection of        genetic tests, interpreting the results of said test, or genetic        counseling that may be accessed by said individual.

In alternative embodiments of this method, three, five, or seven of thesteps enumerated above are provided in an integrated manner. In apreferred embodiment of this method, three five, or seven of the stepsenumerated above are provided in an integrated manner though a siteaccessible through the Internet. The preferred method is one in whichcollection of a sample is performed by said individual.

BRIEF SUMMARY OF THE DRAWINGS

FIG. 1. A model of a site described in this invention. The site containsa posting a list of genetic tests and information concerning genetictests that may be accessed by an individual, a mechanism which enablesindividuals to select and pay for genetic test, a posting of results ofgenetic tests performed for the individual, and a posting of materialsfor interpreting the results of genetic tests. This home pagedemonstrates the integration of information about genetic tests, testresults, information for counseling with mechanisms for individuals toaccess this information, select tests, and receive results andcounseling at the site.

FIG. 2. The site enables individuals to receive information aboutspecific genetic tests and order these tests using an integrated system.

FIG. 3. The site enables individuals to review the results of genetictests performed previously in a private genetic medial record and canselect tests that they would like to have performed

FIG. 4. The site enables individuals to pay for genetic tests that theyhave selected using a credit card or other confidential financialinstrument. The site also directs individuals how to obtainreimbursement from third party payers.

FIG. 5. The site provides individuals with information about genetictest sufficient to provide informed consent and enables individuals toprovide a legally binding informed consent.

FIG. 6. The site enables individuals to order tests online and receiveresults in an integrated manner. In this example, individuals are askedto indicate how they would like to be notified when the results areavailable.

FIG. 7 (a-b). The site enables individuals to submit a sample for DNAbanking. This sample will be identified only by a private code and canbe used for genetic testing over a period of many years.

DETAILED DESCRIPTION

This invention concerns the use of the Internet or world wide web toprovide genetic testing and methods for providing such services toindividuals. The term “providing genetic testing” refers to the processof procuring a sample to be tested, selecting a genetic test or testfrom among the many genetic tests that are developed, and reporting restresults. Providing genetic testing may include the additional steps ofinterpreting test results, providing genetic counseling (whennecessary), or combining genetic test results with other medicalinformation.

This invention describes a method for utilization of genetic testingcomprising the steps of:

-   -   collection and storage of a sample;    -   posting a list of genetic tests and information concerning said        tests that may be accessed by an individual;    -   selection of specific genetic tests by an individual;    -   distributing an aliquot of the said sample to a genetic testing        service to perform said tests;    -   posting the results of said tests that may be accessed by an        individual;    -   posting materials for interpreting the results of said test and        genetic counseling that may be accessed by an individual.

This invention describes a site which enables individuals to utilizegenetic testing through the steps of:

-   -   collection and storage of a sample provided by an individual;    -   posting a list of genetic tests and information concerning said        tests that may be accessed by an individual;    -   selection of specific genetic tests by an individual;    -   distributing an aliquot of the said sample to a genetic testing        service to perform said tests;    -   posting the results of said tests that may be accessed by an        individual;    -   posting materials for interpreting the results of said test and        genetic counseling that may be accessed by an individual.

An alternative embodiment of the invention is a method for utilizationof genetic testing involving the selection of genetic tests by anindividual and one, or more than one, of the following steps:

-   -   collection and storage of a sample provided by an individual;    -   posting a list of genetic tests and information concerning said        tests that may be accessed by an individual;    -   distributing an aliquot of the said sample to a genetic testing        service to perform said tests;    -   posting the results of said tests that may be accessed by an        individual;    -   posting materials for interpreting the results of said test and        genetic counseling that may be accessed by an individual;    -   posting a program to aid the individual in the selection of        genetic tests, interpreting the results of said test, or genetic        counseling that may be accessed by an individual.

An alternative object of this invention is a site enabling the selectionof genetic tests by an individual and one, or more than one, of thefollowing steps:

-   -   collection and storage of a sample provided by an individual;    -   posting a list of genetic tests and information concerning said        tests that may be accessed by an individual;    -   distributing an aliquot of the said sample to a genetic testing        service to perform said tests;    -   posting the results of said tests that may be accessed by an        individual;    -   posting materials for interpreting the results of said test and        genetic counseling that may be accessed by an individual;    -   posting a program to aid the individual in the selection of        genetic tests, interpreting the results of said test, or genetic        counseling that may be accessed by an individual.

An alternative embodiment of the invention is a method for utilizationof genetic testing involving the collection and storage of a sampleprovided by an individual and one, or more than one, of the followingsteps:

-   -   posting a list of genetic tests and information concerning said        tests that may be accessed by an individual;    -   selection of specific genetic tests by an individual,    -   distributing an aliquot of the said sample to a genetic testing        service to perform said tests,    -   posting the results of said tests that may be accessed by an        individual    -   posting materials for interpreting the results of said test and        genetic counseling that may be accessed by an individual.    -   posting a program to aid the individual in the selection of        genetic tests, interpreting the results of said test, or genetic        counseling that may be accessed by an individual.

An alternative object of the invention is a site which enables thecollection and storage of a sample provided by an individual and one, ormore than one, of the following steps:

-   -   posting a list of genetic tests and information concerning said        tests that may be accessed by an individual;    -   selection of specific genetic tests by an individual,    -   distributing an aliquot of the said sample to a genetic testing        service to perform said tests,    -   posting the results of said tests that may be accessed by an        individual    -   posting materials for interpreting the results of said test and        genetic counseling that may be accessed by an individual.    -   posting a program to aid the individual in the selection of        genetic tests, interpreting the results of said test, or genetic        counseling that may be accessed by an individual.

In a specific embodiment of the invention, two or more than two, of thesteps of posting, accessing, selecting, interpreting, and counseling areperformed in an integrated manner via the Internet or world wide web andare integrated with the steps of collecting, distributing, and storage.The term “integrated” means available through a linked system orsystems. In the preferred embodiment of this invention these steps areintegrated on a site accessible via the Internet or world wide web. Inan alternative embodiment of this invention these steps are integratedby alternate media including without limitation mail, fax, interactivetelevision, telephone, or publication.

A specific object of the invention is a site which enables individualswith two or more than two, of the steps of posting, accessing,selecting, interpreting, and counseling in an integrated manner. In analternative object of this invention the site is integrated with one, ormore than one, step provided by alternate media including, withoutlimitation, mail, fax, interactive television, telephone, orpublication.

Specific embodiments of the invention involve the selection of genetictests by an individual and two, or more than two, of the steps ofposting, accessing, interpreting, and counseling are provided in anintegrated manner via the Internet or world wide web and are integratedwith the steps of collecting, distributing, and storage, A specificobject of the invention is a site which enables for selection of genetictests by an individual and two, or more than two, of the steps ofposting, accessing, interpreting, and counseling. In an alternativeobject of this invention the site is integrated with alternate mediaincluding without limitation mail, fax, interactive television,telephone, or publication.

An object of this invention is a site on the Internet or world wide webcontaining a posting of genetic tests that may be selected by anindividual. A specific object of this invention is a site on theInternet or world wide web for selection of tests by an individual whichprovides for two, or more than two, of the steps of collecting,distributing, storage, posting, accessing, interpreting, and counselingin an integrated manner. In an alternative embodiment of this inventionone, or more than one of the steps of collecting, distributing, storage,posting, accessing, interpreting, or counseling are provided for byalternate media including without limitation mail, fax, interactivetelevision, telephone, or publication.

An object of this invention is a site on the Internet or world wide webwhich enables individuals to access information about genetic tests,select genetic tests, access the results of said tests, and accessinformation required to interpret the results of said tests or accessinformation required for genetic counseling. In specific embodiments,the site on the Internet or world wide web enables the individual toaccess one, two, or more than two of the following: (i) informationabout genetic tests, (ii) selection of genetic tests, (iii) the resultsof said tests, (iv) information required to interpret the results ofsaid tests, or (v) information required for genetic counseling. In aspecific embodiment, access to the site, or portions of the site,requires a password or private code. In an alternative embodiment, thesite is integrated with alternate media including without limitationmail, fax, interactive television, telephone, or publication whichprovide one, or more than one, of these functions.

An embodiment of this invention is the collection and storage of samplesprovided by an individual for the purposes of distributing aliquots ofsamples to genetic testing services to perform tests selected by anindividual. A specific embodiment of this invention is the distributionof aliquots of samples to genetic testing services to perform testsselected by an individual.

An object of this invention is a site which enables individuals toaccess and select genetic tests, the results of genetic tests, theinterpretation of the results or genetic counseling which utilizespasswords and private codes to ensure the privacy of the individual. Afurther object of this invention is a site which utilizes passwords andprivate codes to ensure the privacy of an individual accessing andselecting genetic tests, the results of the genetic tests, theinterpretation of the results, or genetic counseling. A further objectof this invention is a site that uses private codes to ensure theprivacy of samples collected, stored or distributed for genetic tests.In a specific object of this invention, the samples which aredistributed to genetic testing services contain a private code and notthe name of the individual.

The terms “Internet” or “world wide web” are known in the art and referto electronic networks, or elements of electronic networks, for theexchange of information between individuals and includes, withoutlimitation, public systems such as the world wide web and public orprivate systems providing access to sites on said network including,without limitation, companies with private networks accessed bytelephone, cable, wireless devises, or satellite or sites providingportals for entry into any public or private network. The term “site”refers to the software and hardware accessible through a URL (UniversalRecord Locator) or address on the Internet or world wide web andincludes, without limitation, the concept, design, construction,appearance, organization, function, and content of materials posted andaccessed at that URL.

Methods for constructing and operating the site anticipated by thisinvention including the software to create and operate the site and thehardware and Internet connections that make sites available over theInternet are generally known in the art, are described in many books forlay and professional users of the Internet, and are available fromcommercial vendors. For example, FrontPage (Microsoft Corporation) is asimple computer program which can be used to create a site. Moresophisticated sites are generally created directly in languages such asHTML and Java by companies dedicated to webdesign and construction.Sites are commonly linked to various databases. For this invention, thesite may be linked to databases of information about genetic testing, adatabase of individuals who use the site, and databases containingpersonal genetic or medical records. Databases may be constructed andmaintained using commercially available software such as Oracle. Digitalsignatures can be used implemented using VeriSign Secure Digital ID.Payment may be made by credit card or by way of Cyber\Cash. A paymentsystem may also include software for correctly calculating sales tax andspecifying shipping options such as Taxware and TanData. A site iscommonly hosted on a server by an ISP (Internet Service Provider) suchas UUNet, Genuity, ATT or Verio. The site anticipated by this inventioncould be hosted on a commercially available server such as a CompaqEnterprise Hosting NT system and run Microsoft Site Server Edition 3.0and SQL Server Database. Various security systems and systems forencrypting data are known in the art and are generally available inmajor browser products. These systems are used to protect the privacy ofindividual medical and financial records that may be available throughthe Internet. While this invention will benefit from continuing advancesin Internet software, hardware, and practices, the elements required toconstruct and operate the site anticipated by this invention aregenerally available in the art.

A specific object of this invention is a site that integrates two, ormore than two, steps required to provide genetic testing services asenumerated above. Specific objects of this invention are the softwareand hardware capable of carrying out the unique methods and embodimentsdescribed including without limitation, the concept, design,construction, appearance, organization, function, and content of a sitethat integrate the multiple steps required to provide genetic services.Specific embodiments also include the software and hardware capable ofcarrying out the unique methods and embodiments described includingwithout limitation, the concept, design, construction, appearance,organization, function, and content of a site integrated with alternatemedia including without limitation mail, fax, interactive television, ortelephone to provide genetic testing.

The term “individual” refers to, without limitation, any personincluding a patient as well as family, friends, or agents of a person orpatient other than those working in their capacity as health careproviders. The term “individual” excludes biopharmaceutical companiesand their agents or affiliates and the organizers, sponsors, staff, orinvestigators of clinical trials. The term “health care provider” iscommonly known in the art and includes, without limitation, physicians,practitioners specialized in genetics such as M.D. or Ph.D. trainedgeneticists or genetic counselors, practitioners specializing in thecare of individuals with disabilities or inherited genetic diseases.

An embodiment of this invention is the collection and storage of samplesprovided by an individual. The terms “collection” or “collecting” referto the process of obtaining a sample from an individual that containsDNA in a form that can be used for genetic testing. In a preferredembodiment of this invention, collection is performed by the individualand the sample is then sent to a central facility for storage. The terms“storage” or “storing” refer to the process of maintaining the samplesunder conditions that preserve the integrity of the sample such that itcan be used for genetic testing together with a system for tracking thelocation of the sample so that it can be retrieved. In a preferredembodiment, the samples are stored and used for multiple genetic teststo be performed at different times. A “central facility” is a facilitythat has the equipment and resources necessary to preserve and track thesample in an integrated manner with posting. A central facility may beoperated in accordance with FDA or CLIA (Clinical Laboratory ImprovementAmendments) regulations. In alternative embodiments of this inventionthe sample may be collected by an individual or a health care providerand sent to the central facility. In the preferred embodiment of thisinvention the sample is collected by the individual.

An embodiment of this invention is the storage of the sample in acentral facility identified with a private code such that aliquots ofthe sample can be distributed to genetic testing providers. The term“private code” refers to a series of alphanumeric characters whichprovide a unique identifier for each sample. In an alternativeembodiment of this invention the private code could be a fingerprint,handwriting sample, electronic voice print, or other unique identifierof the individual known in the art.

The term “sample” refers to, but is not limited to, an aliquot of blood,hair, cells from a scraping of skin, mucosal membranes, or other bodypart, or bodily secretion including saliva, mucous, urine, or fecesuseful for genetic testing. The term sample also refers to, withoutlimitation, DNA, RNA, protein or other materials useful for genetictesting extracted or purified from sources such as an aliquot of blood,hair, cells from a scraping of skin, mucosal membranes, or other bodypart, or bodily secretion, for example saliva, mucous, urine, or feces.

In specific embodiments of this invention the sample is collected in acontainer or on an absorbent surface. A “container” is a device thatholds the sample. Various containers for holding samples are known inthe art. The container commonly comprises a surface or contains reagentsthat prevent degradation of the sample as well as a closure mechanismthat protects the sample from the environment. Various containers areknown in the art. An “absorbent surface” commonly comprises a sheet ofmaterial which can hold or bind the sample. Various absorbent surfacesfor holding or binding samples are known in the art. In specificembodiments the absorbent surface can be used to purify DNA, RNA orprotein. In a preferred embodiment of this invention, the container orabsorbent surface allows a sample to be collected by an individual.Specific objects of this invention are the containers that enableindividuals to collect samples.

In a specific embodiment of this invention the sample is collected instored such that the sample can be separated into aliquots that can besent to different genetic testing services. The term “aliquot” refers toan amount of the sample, a container or absorbent surface containing asample, or DNA, RNA, or protein purified from a sample in an amountsufficient to perform a genetic test and in a form suitable forperforming said tests.

In a preferred embodiment of this invention the sample is collected bythe individual using a puncture device to draw blood which is placed ina container or on an absorbent surface. In a specific embodiment thedevice is designed specifically to causes a puncture of the skinsufficient to collect the amount of blood required for testing. Inspecific embodiments the puncture is sufficient to collect more than onedrop. In preferred embodiments, the puncture is sufficient to collect5-10 drops or 200-500 ul of blood. In a further embodiment, the devicecontains both elements designed to puncture the skin and a container oran absorbent surface designed to store the sample. In an alternativeembodiment of this invention, the sample is collected by the individualas hair or by scraping of skin, mucosal membranes or other body part orbodily secretion including, but not limited to, saliva, sputum, orfeces.

In a specific embodiment of this invention the individual is providedwith a container or absorbent surface with a private code and this codeis used to store and label the sample. In a specific embodiment thecontainer or absorbent surface is labeled with a fingerprint,handwriting sample, electronic voice print, or other unique identifierof the individual known in the art. In an alternative embodiment thecontainer or absorbent surface is labeled by the individual using aprivate code. In specific embodiments the container or absorbent surfaceis labeled with a print, type, array of spots or marks, a magneticstrip, bar code, or other media for automatic reading. In a specificembodiment, the container or absorbent surface does not contain the nameof the individual. A specific object of this invention is a container orabsorbent surface which is labeled with a private code, fingerprint,handwriting sample, electronic voice print, print, type, array of spotsor marks, magnetic strip, bar code or other unique identifier of theindividual known in the art and does not contain the name of theindividual.

An object of this invention is a site which includes the posting ofinformation for access by individuals which may be used to select tests,interpret results or for genetic counseling. The term “posting” or“posted” refers to making a source of information available for accessby individuals. The terms “accessing” or “access” refers to the abilityof an individual to retrieve, receive, or review the information that isposted. In specific embodiments of this invention there is posted two,or more than two, of the following elements: (i) a list of availablegenetic tests; (ii) information that enables an individual who accessesthis list to select tests that may be of interest to them, (iii) theresults of genetic tests, (iv) information for the interpretation ofgenetic tests, (v) information for genetic counseling concerning genetictest results, (vi) programs to assist the individual with selecting agenetic test, interpreting test results, or genetic counseling. In aspecific embodiment of this invention, the information to be posted isincorporated in a database and posting is on a site on the Internet thatcan be accessed via the world wide web. In a further embodiment of thisinvention at least one of these elements is posted on a site and one, ormore than one, of these elements are posted by an alternate mediaincluding without limitation mail, fax, interactive television,telephone, or publication. In specific embodiments posting may comprise,but is not limited to, one, or more than one, of the following:alphanumeric text, pictures, pictographs, symbols, audio, voice, video,or animation.

A specific object of the invention is a site for posting. In specificembodiments the site contains two, or more than two of the followingelements (i) a list of available genetic tests; (ii) information thatenables an individual who accesses this list to select tests that may beof interest to them, (iii) the results of genetic tests, (iv)information for the interpretation of genetic tests, or (v) informationfor genetic counseling concerning the use of genetic test results, (vi)programs to assist the individual with selecting a genetic test,interpreting test results, or genetic counseling. An alternative objectof the invention is a site on the Internet for posting which contains atleast one of these elements integrated with the posting of one, or morethan one, of these elements by an alternate media including withoutlimitation mail, fax, interactive television, telephone, or publication.

In a specific embodiment of this invention is a posting of two, or morethan two, different genetic tests that may be selected by an individual.An alternative embodiment of this invention is the posting of more thanfive different genetic tests that may be selected by an individual. Afurther embodiment of this invention is the posting of more than tendifferent genetic tests that may be selected by an individual. A furtherembodiment of this invention is the posting of more than twenty-fivedifferent genetic tests that may be selected by an individual. Apreferred embodiment is the posting of more than one hundred genetictests that may be selected by an individual. In specific embodimentsthere is posted on a site which enables the selection of genetic testsby an individual, information on more than two genetic tests for accessby individuals which may be used to select tests, interpret results orfor genetic counseling. In alternative embodiments there is postedinformation on more than five genetic tests, alternatively informationon more than ten genetic tests, alternatively information on more thantwenty-five genetic tests, or most preferably information on more thanone hundred genetic tests. A specific object of this invention is a sitewith the posting of information on more than two, five, ten,twenty-five, or preferably more than one hundred genetic tests. Anadditional object of this invention is a site which enables individualsto select from more than two, five, ten, twenty-five, or preferably morethan one hundred genetic tests.

In a specific embodiment of this invention accessing or access islimited to individuals having a password or private code. The term“password” refers to a set of alphanumeric characters known by theindividual which allows access to the posted materials. The termpassword may also refer to fingerprints, handwriting samples, electronicvoice prints, images, or other unique identifier of the individual knownin the art. Methods for limiting access to individuals with passwordsare known in the art.

“Selection” or “selecting” refers to the ordering or purchasing agenetic test to be performed on an individual sample. Selection causes atest to be performed and, in specific embodiments of this invention,causes an aliquot of a sample to be sent to a genetic testing serviceand the results to be provided to the individual. Selection can be madeusing a site and methods known in the art such as “point and click”where an icon or link on the site enables individuals to select a test.The term selection also includes payment provided to cover the cost ofthe test and any ancillary services.

The terms “utilization” or “utilize” refer to one or more of theselection of a genetic test, accessing the results of genetic tests, theinterpretation of genetic test results, or counseling concerning genetictest results. Genetic counseling is designed to guide an individual inthe utilization of genetic test results. A test may be utilized by anindividual or a health care provider. Genetic tests can be utilized formany purposes including making health care choices including choicesabout reproduction as well as many lifestyle decisions related to diet,employment, work habits, recreational habits, retirement, education orinsurance. It will be apparent that an individual who receivesinformation about genetic tests, selects a genetic test, receives theresult of a genetic test, or receives information for interpretation andcounseling utilizes genetic tests, whether or not that individualchooses to make changes in their healthcare or lifestyle as a result. Itwill also be recognized that an individual who communicates theinformation about a genetic test, genetic test results, or informationfor interpretation and counseling to a healthcare provider also utilizesgenetic tests in seeking to improve their healthcare.

An object of this invention is a site that enables the selection ofgenetic tests by an individual. An embodiment of this invention is theselection of genetic tests by an individual. In preferred embodiments,the test is selected by an individual who is a patient, and individualwho is a family member of a patient, an individual who is a friend oragent of a patient other than those who may be working in their capacityas health care providers. In a preferred embodiment, selection isperformed by an individual using a password or private code. In afurther embodiment of this invention, selection is performed usinginformation concerning the utility of a list of available genetic testsposted for access by an individual and integrated with the method forselection. In a specific embodiment of this invention the selection ismade by the individual, not by a health care provider on behalf of anindividual person or patient.

In specific objects of this invention, the site contains informationconcerning the utility of a list of available genetic tests posted foraccess by an individual and integrated with the method for selection.

In an alternative embodiment of this invention, the selection is made bya health care provider acting as an agent for the individual and theindividual access the results of the test and information useful inselecting test, interpreting results, or genetic counseling. A specificobject of this invention is a site which enables a health care providerto select genetic tests and the individual to access test results andinformation useful in the selection of genetic tests, the interpretationof genetic tests.

In an alternative embodiment of this invention, the selection is made byan individual with the authorization of a health care provider and theindividual access the results of the test and information useful inselecting test, interpreting results, or genetic counseling. A specificobject of this invention is a site which enables a health care providerto authorize an individual to select genetic tests genetic tests and theindividual to access test results and information useful in theselection of genetic tests, the interpretation of genetic tests. Theterms “authorize” or “authorization” refer to the action of a healthcare provider which enables an individual to select a genetic test. Instates where a prescription is necessary for genetic testing, a healthcare provider may provide an authorization for individual to selecttests.

In a specific embodiment of this invention, the individual providespayment as part of the process of selection by providing for use of acredit card, debit card, account, bank account, or other forms ofelectronic payment using methods known in the art. In an alternativeembodiment of this invention, the individual provides information whichallows for reimbursement from payers including, but not limited to,health insurance providers, medicare, or medicaid. In a specificembodiment of this invention, payment, forms of electronic payment, orreimbursement are arranged over the Internet or world wide web. In analternative embodiment of this invention there is posted for access byan individual using a password or private code, information sufficientfor the individual to obtain reimbursement. In an alternative embodimentof this invention, payment, use of forms of electronic payment,reimbursement, or information sufficient for reimbursement are providedby alternate media including without limitation mail, fax, interactivetelevision, or telephone. A specific object of this invention is a sitewhich enables individuals to pay for genetic tests by providing for useof a credit card, debit card, account, bank account, or other forms ofelectronic payment using methods known in the art. In an alternativeobject of this invention, is a site which enables individuals to accessinformation which allows for reimbursement of genetic tests from payersincluding, but not limited to, health insurance providers, medicare, ormedicaid.

In a further embodiment of the invention the process of selectioninvolves providing informed consent. By “informed consent” is meant aprocess by which individuals receive information about a genetic testthat they may wish to select, and provide legally binding consent forsuch a test to be performed on their sample. Consent may be given usingelectronic signatures or other legal methods known in the art includingwithout limitation mail or fax. In a further embodiment of thisinvention the informed consent may include a program or aself-assessment test in which individuals are presented with questionsto assess their knowledge about a test that they wish to select. Aspecific object of this invention is a site that enables individuals togive informed consent for a genetic test.

An object of this invention is a site that controls the distribution ofan aliquot of a sample to genetic testing service to perform a testselected by an individual. An embodiment of this invention is thedistribution of an aliquot of a sample to a genetic testing service toperform the test selected by an individual. The term “distribution”refers to sending an aliquot of a sample from a central facility wherethe sample is stored to a genetic testing service for the purposes ofperforming a selected genetic test. In an embodiment of this inventionthe sample is distributed to a genetic testing service that is notassociated with the central facility for DNA storage. In an alternativeembodiment, the sample is distributed to a genetic testing service thatis associated with the central facility for DNA storage. A specificobject of this invention is a site which enables individuals to trackthe progress of a sample within a central facility through distributionto a genetic testing service.

An embodiment of this invention is that the selection of a genetic testby an individual, payment, or reimbursement are integrated with thedistribution of an aliquot of the sample, or DNA purified from thesample, is distributed to a genetic testing service that is capable andqualified to perform the selected test. The tests selected by theindividual are then performed by the genetic testing service. The term“associated” refers to genetic testing services that have the sameownership as the central facility, are majority owned by the centralfacility, own a majority of the central facility, share majoritypersonnel with the central facility, share working facilities with thecentral facility. Associated does not refer to genetic testing servicesthat have contracts to perform work for the central facility. The term“genetic testing service” refers to any entity capable and qualified toperform selected genetic tests and includes, without limitation,specialized genetic testing services, diagnostic reference laboratoriesproviding genetic testing, hospital laboratories, clinical chemistrylaboratories, or other entities performing genetic testing. Genetictesting services may be regulated by federal agencies including the FDAor CLIA.

The terms “genetic test” or “genetic testing” refer to the analysis ofDNA, RNA, or protein in a sample from an individual which determines,without limitation, the sequence of one, or more than one, genes withinthe sample, the presence or absence of a genetic marker, variance,mutation, polymorphism, or micro satellite sequence associated with agene, the presence of a viral sequence, viral-like sequence, orrepetitive sequence, a haplotype spanning one, or more than one, gene,the number of copies of one, or more than one gene, the amount orcharacteristics of RNA or protein expressed from a gene, the arrangementof genes within the genome, the chromosome number, or integrity ofchromosomes. This invention preferably concerns genetic tests useful indiagnosing genetic disease, determining an individual's propensity tomultifactorial diseases, and predicting an individual's response totherapeutic drugs. Excluded from the definition of genetic tests aretests to determine paternity or maternity or for forensic analysis, orto determine sex, even if such tests incorporate elements of geneticanalysis, since such tests are generally not useful for medicalpurposes.

The term “gene” is commonly known in the art and is a linear sequence ofnucleotides within the human genome that encodes a biological function.A gene commonly directs the expression of RNA or protein which may bedirectly responsible for carrying out the function encoded by the gene,or the RNA or protein may be modified to carry out such functions. Thegene may include introns, exons, promoters, or other sequences which areinvolved in directing the biological function. It is recognized to thosein the art that the sequence of nucleotides (a,g,c,t) within the genewhich encode its function may vary in different individuals, and thatvariances or mutations within the sequences of nucleotides may changethe function. A “variance” or “mutation” is a specific sequence within agene that is an identifies genes with specific functions or contributesto specific functions. A “genetic marker”, “polymorphism”, “singlenucleotide polymorphism” (SNP), or “micro satellite sequence” arespecific sequences within a gene that identify genes with specificfunctions, though such sequences often do not contribute to thatfunction. Those skilled in the art will recognize that the termsvariance, mutation, genetic marker, polymorphism, SNP are often usedinterchangeably.

A genetic test is distinct from paternity or maternity testing orforensic testing, even if such tests involve the analysis of DNA orprotein from an individual. Such tests are not useful in diagnosinggenetic disease, determining an individual's propensity tomultifactorial diseases, and predicting an individual's response totherapeutic drugs. Moreover, such testing does not involve specificgenes or genetic marker, variance, mutation, polymorphism, or microsatellite sequence associated with a gene, but commonly involveanonymous markers throughout the genome.

A preferred embodiment of this invention is that the aliquot of thesample that is distributed is identified only by a private code. Inalternative embodiments, the sample may contain a private code togetherwith other identifying information.

An embodiment of this invention is the posting of the results of thegenetic test for access by the individual. A specific embodiment of thisinvention is the posting of results of the genetic test for access byindividuals through a password or private code. The term “results”refers to the determination, using a genetic test, of the sequence of agene or the presence or absence of one, or more than one, geneticmarkers, variance, mutation, polymorphism, or micro satellite sequencesassociated with a gene, the presence of a viral sequence, viral-likesequence, repetitive sequence, a haplotype spanning one, or more thanone, gene, the number of copies of one, or more than one, gene, theamount or characteristics of RNA or protein expressed from a gene, thearrangement of genes within the genome or information concerning thechromosome number or integrity of chromosomes, all being the subject ofgenetic tests known in the art. In an alternative embodiment of thisinvention, the results are posted for access by health care providers. Aspecific object of this invention is a site for posting the results ofgenetic tests for access by an individual.

An object of this invention is a site with the posting of materials forinterpreting the results of said test and material and geneticcounseling that may be accessed by an individual using a password orprivate code. “Interpreting” the results means relating the technicaldescription of the test result, namely the sequence of one, or more thanone, gene within the sample, the presence or absence of a geneticmarker, variance, mutation, polymorphism, or micro satellite sequenceassociated with a gene, the presence of a viral sequence, viral-likesequence, repetitive sequence, a haplotype spanning one, or more thanone, gene, the number of copies of one, or more than one, gene, theamount or characteristics of RNA or protein expressed from a gene, thearrangement of genes within the genome or information concerning thechromosome number or integrity of chromosomes to a specific medicalcondition or risk of a specific medical condition. Examples ofinterpretation include, but are not limited to, the determination ofwhether a specific change in the nucleotide sequence is normal or likelyto cause disease or determining whether a haplotype corresponds to aform of a gene with a predictable genetic effect.

“Counseling” means providing information concerning the use of theresults of a genetic test in choosing medical care, assessing diseaserisk, family planning, or personal activities. Examples of counselinginclude, but are not limited to, determining the likelihood that anindividual will have a certain form of cancer based on the results of agenetic test, determining the likelihood of an inherited certain geneticdisorder based on the results of a genetic test, or selecting a drugwhich is likely to be safe and effective based on the results of agenetic test. An embodiment of this invention is the posting ofinformation concerning genetic tests, for selection, interpretation, orcounseling. A further embodiment is a site which can be accessed by anindividual that integrates selection, interpretation, or counseling. Apreferred embodiment is the access to such information or site using apassword or private code. In alternative embodiments, the posting ofsuch information are provided by alternate media including withoutlimitation mail, fax, interactive television, telephone, or publication.In an alternative embodiment there is posted a list of geneticcounselors or health care providers with expertise or geographicalproximity required to provide counseling to the individual.

An object of this invention is a site that provides individuals withaccess to materials for use in interpreting or counseling including, butnot limited to, text in books, pamphlets or electronic format, video oraudio, or interactive computer systems or other interactive media, suchmaterial being posted on the Internet or world wide web or provided viaan alternate media including, but not limited to, mail, fax, interactivetelevision, telephone, or publication. An alternative object of thisinvention is a site with posted information for the individualidentifying health care providers who specialize in interpreting orgenetic counseling. In a specific embodiment of this invention, there isposted a catalogue of materials for interpreting or counseling that maybe purchased by accessing the posted information using a password orprivate code.

In further embodiments of this invention, one, or more than one,non-genetic tests are performed in conjunction with the genetic testwhich are useful in selecting, interpreting or counseling. Non-genetictests may include, but are not limited to, blood tests to determine thecontent of cells, proteins, salts, enzymes, carbohydrates, fats, orother constituents of the blood, or tests performed on urine or feces.In a preferred embodiment, the individual can access information, selectsuch tests, and access the results through a system integrated withgenetic testing.

An object of this invention is a program for collecting informationconcerning an individual useful in the selection of a genetic test,interpretation of a genetic test, or genetic counseling where saidprogram is posted on the Internet or world wide web and is accessedusing a password or private code. A specific embodiment of thisinvention is a program useful in the selection, interpretation, orcounseling where said program is posted on the Internet or world wideweb and is accessed using a password or private code. The term “program”means an interactive medium such as a questionnaire or a computerprogram which is accessed via the world wide web which involves queriesfor information concerning the individual where such information isuseful in selection, interpretation, or counseling. In alternativeembodiments, the program is posted by an alternate media including, butnot limited to, mail, fax, interactive television, telephone, orpublication. A program may consist of software, hardware, or printedmaterials and may involve one, or more than one of, a database with anindividual's medical records, statistical or analytical analysis, orlinks to clinical databases or published medial information. A specificobject of the invention is the posting of a program on the site. Analternative object of the invention is the posting of a programcomprised of software by mail.

An object of this invention is a site with the posting of a program forcollection of information about the individual including, but notlimited to, their health, development, medical history as well as theirgenetic or family history, their medical history, as well as a geneticor family history which would be useful in selecting, interpreting, orcounseling. In a specific embodiment this posting can be accessed onlywith a password or private code. In a specific embodiment, there isposted a program which uses the collected information to assist theindividual in selecting a genetic test. In a specific embodiment thereis posted a program which uses the collect information to assist theindividual in selecting, interpreting, or counseling. In alternativeembodiments, the program is posted by an alternate media including, butnot limited to, mail, fax, interactive television, telephone, orpublication.

An embodiment of this invention is the posting of an individual recordwhich can be accessed through the Internet or world wide web using apassword or private code where the information in the record is usefulin the selection of genetic tests, interpretation of test results, orgenetic counseling. The term “record” means a compilation of informationabout the individual such as a medical record including, but not limitedto, the results of genetic tests, the results of non-genetic tests, ahistory of health, development, and illness, or a genetic or familyhistory. In a specific embodiment of this invention, the individualrecord is compiled using a program. In alternative embodiments of thisinvention, the individual record is provided by the individual or healthcare providers. In alternative embodiments, the record is posted by analternate media including, but not limited to, mail, fax, interactivetelevision, telephone, or publication.

The invention is illustrated further by the following examples, whichare not to be taken as limiting in any way. It should be understood thatalthough the present invention has been specifically disclosed bypreferred embodiments and optional features, modification and variationof the concepts herein disclosed may be resorted to by those skilled inthe art, and that such modifications and variations are considered to bewithin the scope of this invention as defined by the appended claims.

Example 1 Genetic Testing for Prevention of Breast Cancer

An individual concerned about her risk for breast cancer accessesinformation about genetic tests which predict the risk of cancer througha site such as www.mygenome.com. The site contains information abouttests for genes including BRCA1, BRCA2, p53, p21, p16 and other genesthat have been implicated as predisposing factors for breast cancer. Theindividual selects a password which provides private access toadditional information at the site and enables her to select genetictests which she would like performed. The site also contains a programwhich queries the individual about her family history or breast cancer,age of menstruation, age of first pregnancy, and exposure to potentialcarcinogens, all of which have been implicated as risk factors forbreast cancer.

Because of her family history or breast cancer, the patient, guided by aprogram on the site, selects to have a test for mutations in the BRCA1gene. The individual also chooses to provide a sample herself. Throughthe site, the patient requests that an appropriate container be sent toher which enables her to provide a sample of blood from a finger prick(equivalent to a glucose stick). The container is pre-labeled with aprivate code. Using the appropriate device and container, several dropsof blood are obtained and the sample is returned to the centralfacility. The individual retains the private code number of her sample.

Using the password the individual accesses www.mygenome.com, selects theBRCA1 test, and provides the private code that identifies her sample.She also chooses to pay by a credit card, rather than involve thirdparty payers, and provides the account information for a VISA card. Shealso asks for documentation that will allow her to seek reimbursement ata later date.

Once the test is selected, the central facility removes an aliquot ofthe sample and, with the sample identified only with the patient code,sends the aliquot to Myriad Diagnostics, Inc. which has proprietarytests for mutations in BRCA1. The results of the test are provided tomygenome.com and are posted for the patient by confidential mail and onwww.mygenome.com such that it can only be accesses with her password.

Two variances in the sequence of the BRCA1 gene in the individual areidentified by the genetic test that are different from the “normal”consensus sequence. To interpret the results, the individual accesseswww.mygenome.com using her password and learns that one of the variancesthat was identified is common in people of her ethnic origin and isthought to have no effect on the risk of breast cancer. The othervariance has been reported in individuals with a moderate risk of breastcancer if there are also mutations in a second gene BRCA2. Theindividual therefore selects to have an additional test performed forBRCA2, chooses again to pay using her VISA card, and another aliquot ofthe sample is then sent for BRCA2 testing identified only by a privatecode. The results show that there are no mutations in the BRCA2 gene.

The individual seeks counseling information through www.mygenome.comusing her password and accesses information which indicates that she mayhave a risk of breast cancer 1.5-2 times that of individuals who have nomutations in BRCA1. She also learns that there is an ongoing study ofthe use of Tamoxifen to prevent breast cancer in individuals withmutations in BRCA1. She is provided with the name and address of a localhealth care provider who is expert in the prevention and treatment ofbreast cancer as well as the name and address of an investigatorperforming this trial. She chooses to contact the investigator of thisstudy and, through the site, asks that the results of the BRCA1 andBRCA2 tests be sent to this investigator.

This example illustrates that the accessing, selecting, testing,interpreting and counseling for genetic testing is performed in a fullyconfidential and private manner using private communications through theInternet and through the storage and distribution of samples identifiedonly by private codes. Using this method, the individual is able toaccess quality information required to select genetic tests that mayhave an important impact on her future health without risking a loss ofprivacy and attendant discrimination.

Example 2 Genetic Tests Predicting Common Diseases

Most common diseases are caused by a combination of genetic andenvironmental factors. Such diseases occur at higher frequency inindividuals who have mutations in one or more critical genes, but alsorequire the coincidence of environmental factors. Genetic testing forsuch diseases can be effective in identifying whether an individual isat risk so that the environmental factors which contribute to thedisease can be avoided or treated through changes in lifestyle orhealthcare. Examples of genetic tests that predict the risk of commondisorders are:

-   Disorder: Genetic test-   Cancer Breast Cancer (BRCA1)*; BRCA1; Ovarian Cancer (BRCA1)    -   Breast Cancer (BRCA2)*; BRCA2; Ovarian Cancer (BRCA2)    -   p53    -   p21    -   p16    -   Ataxia Telangectasia    -   Familial Colorectal Cancer; Familial Colon Cancer    -   Medullary Thyroid Carcinoma; MTC-   Others . . .-   Alzheimer's Disease Apolipoprotein E    -   β amyloid precursor protein    -   protein τ    -   presenilin-1, presenilin-2    -   α 2-macroglobulin    -   a 1-antichymotrypsin-   Heart attack, stroke Apolipoprotein E    -   Lipoprotein lipase    -   LDL receptor    -   MTHFR-   ALS Superoxide Dismutase (SOD)-   COPD α 1-antitrypsin (AAT)-   Anemia hemoglobin S    -   hemoglobin C    -   thalassemia (α)    -   thalassemia (β)    -   G-6 PD-   Liver failure Hemochromatosis-   Spina Bifida MTHFR

Example 3 Genetic Tests Predictive of Drug Response

Variations in genes that affect the metabolism of drugs can increasedrug levels, drug toxicity and drug interactions. Genetic tests can beused to avoid drugs that have a higher probability of toxicity andindividualize the dose to maximize the therapeutic benefit whileminimizing toxicity. The following are examples of tests that can beused to guide the safety and appropriate application of important drugs.

-   CYP1A1 Chlorinated benzenes (environmental toxin)-   CYP1A2 Caffeine, phenacetin, warfarin, Erythromycin, Ropivacaine,    Haloperidol, antipyrine, theophylline, Paracetamol-   CYP2C8 TCA, Diazepam, Hexabarbitone-   CYP2C9/10 Phenytoin, S-warfarin, Diclofenac, Tolbutamide-   CYP2C19 Mephenytoin, Diazepam (Valium), TCA-   CYP2D6 Debrisoquine, Codeine, Dextrometorphan, b-blockers, SSRIs,    others-   CYP2E1 Paracetamol, Isoflurane, Sevoflurane, Methoxyflurane,    Enflurane, Trichorethylene-   CYP3A4 Nifedipine, Dextrometorphan, Alfentanil, Sufentanil,    Fentanyl, Erythromycin, Lignocaine, Ropivacaine, Midazolam, Codeine,    Granisetron, Hydrocortisone-   CYP3A5 Caffeine, Diltiazem-   CYP3A7 Midazolam-   CYP17 Pregnolone-   CYP19 Testosterone-   CYP21 A2 17-hydroxyprogesterone    Variations in genes that affect drug targets and drug response may    affect the safety and efficacy of a drug. Genetic tests can be used    to avoid drugs that have a higher probability of toxicity and    individualize the dose to maximize the therapeutic benefit while    minimizing toxicity.-   Factor V Oral contraceptives-   Prothrombin Oral contraceptives-   TPMT (thiopurine methyltransferase) Azothioprine, mercaptopurine    (purine analogues)-   5′ lipoxegenase Zilutin (5′ lipoxegenase inhibitors)-   CETP (cholesterol ester transfer protein) Pravastatin, others    (statins)-   ApoE (apolipoprotein E) Tacrine (cholinesterase inhibitors,    muscarinic agonists, others)-   G-6 PD (glucose 6 phosphase dehydrogenase) sulfur drugs-   pseudocholinesterase pseudocholinesterase inhibitors-   β-receptor Isoproterenol (β-agonists)-   Serotonin transporter SSRI antidepressants (Prozac, Pindolol,    others)-   acetyltransferase isoniazid, others-   ADH(2h) (aldehyde dehydrogenase) alcohol-   ACE (angiotensin converting enzyme) Enalpril, others-   opioid receptors Endorphins, morphine

Example 4 Genetic Tests for Inherited (Single Gene) Disease

A large number or inherited genetic diseases are caused bywell-characterized mutations in genes that impair the function of a geneor cause a gene to have dominant, adverse effects. Many of these testsare performed in academic, hospital clinical laboratories or in theresearch laboratories of scientists who study these disorders. Thefollowing is partial list of genetic tests for inherited geneticdiseases. This list was derived, in part, from http://www.genetests.org.

Achondroplasia* Adenosine Monophosphate Deaminase 1*; AMPD1;Exercise-Induced Myopathy Adrenoleukodystrophy, X-linked*; AddisonDisease and Cerebral Sclerosis; Adrenomyeloneuropathy;Adrenoleukodystrophy, Recessive*; Neonatal Adrenoleukodystrophy AlphaThalassemia Alpha-1-Antitrypsin Deficiency Amyloidosis Type I*; AmyloidPolyneuropathy, Andrade or Portugese Type; Amyloidosis, Portugese TypeAmyloidosis, Swedish Type Angelman Syndrome Azoospermia*; Oligospermia(CFTR) Bloom Syndrome* Canavan Disease Carnitine PalmitoyltransferaseDeficiency*; CPT I Deficiency; CPT II Deficiency Carnitine Deficiency,Systemic* Charcot-Marie-Tooth Disease, X-linked*; CMTX; HMSN, X-linked;Hereditary Motor and Sensory Neuropathy, Charcot-Marie-Tooth Disease,Citrullinemia* Congenital Bilateral Absence of the Vas Deferens*; CBAVDCongenital Adrenal Hyperplasia*; 21-Hydroxylase Deficiency; CAH CysticFibrosis*; CF Cytochrome C Oxidase Deficiency*; COX DeficiencyDentatorubral-Pallidoluysian Atrophy*; DRPLA

Duchenne Muscular Dystrophy*; BMD, included; Becker Muscular Dystrophy,included; DMD

Dystonia Type I*; Torsion Dystonia 1, Dominant Early Onset FamilialAlzheimer Disease*; AD1; AD3; AD4; Alzheimer Disease, Type I; AlzheimerDisease, Type Factor V Leiden Mutation*; Resistance to Activated ProteinC; Thrombophilia V(Protein C Resistance); Thrombosis Risk Factor (FactorV Leiden)

Fragile X Syndrome*; FRAXA; Martin-Bell syndrome

Friedreich Ataxia Galactosemia*; Galactose-1-Phosphate UridyltransferaseDeficiency Gaucher Disease*; Glucocerebrosidase Deficiency GenotypicGender Assignment*; XX/XY Gender Assignment Glycogen Storage DiseaseType III*; Cori Disease; Debrancher Deficiency; Forbe Disease GlycogenStorage Disease Type VII*; PFK Deficiency; PhosphofructokinaseDeficiency; Tarui Disease Glycogen Storage Disease Type IV*; BrancherDeficiency Glycogen Storage Disease Type V*; McArdle Syndrome GlycogenStorage Disease Type II*; Pompe Disease Hemochromatosis Hemoglobin E*Hemoglobin C*; SC Disease; Sickle Cell Disease (Hemoglobin C) HemoglobinS*; Sickle Cell Anemia; Sickle Cell Disease (Hemoglobin S) HemophiliaA*; Factor VIII Deficiency Hemophilia B*; Christmas Disease; Factor IXDeficiency Hereditary Motor and Sensory Neuropathy, Dominant (Type I)

Hereditary Neuropathy with Liability to Pressure Palsies*; HNPP

Huntington Disease*; HD Hydrocephalus, X-linked*; Aqueductal Stenosis,Hypochondroplasia Kennedy Disease*; SBMA; Spinal and Bulbar MuscularAtrophy Lactate Dehydrogenase Deficiency*; LDH Deficiency Late OnsetFamilial Alzheimer Disease*; AD2; AD5; Alzheimer Disease (ApolipoproteinE); Alzheimer Disease, Medium Chain Acyl-CoA Dehydrogenase MedullaryThyroid Carcinoma*; MTC Leber Hereditary Optic Neuropathy MarfanSyndrome* Medium Chain Acyl-CoA Dehydrogenase Deficiency*; MCADDeficiency Mitochondrial Myopathy*; Kearns-Sayre Syndrome; LHON; LeighDisease; MELAS; MERRF; NARP MTHFR Thermolabile Variant*; CardiovascularRisk Factor, Neural Tube Defect Risk Factor, Preeclampsia Risk Factor,Thrombosis Risk Factor Multiple Endocrine Neoplasia Type 2B/3*; MEN2B;MEN3 Multiple Endocrine Neoplasia Type 2A*; MEN2A Myotonic Dystrophy*;Steinert Disease Neurofibromatosis Type II*; NF2 Neurofibromatosis TypeI*; NF1; Von Recklinghausen Disease Niemann-Pick Disease* NorrieDisease* Parentage Testing*; Maternity Testing; Paternity TestingPhenylketonuria, Phenylalanine Hydroxylase Deficiency PhosphoglycerateMutase Deficiency*; PGAM Deficiency Phosphoglycerate Kinase Deficiency*;PGK Deficiency Phosphorylase Kinase Deficiency of Liver and Muscle*Prader-Willi Syndrome Protein C; Thrombophilia V(Protein C Resistance);Thrombosis Risk Factor (Factor V Leiden) Refsum Syndrome, Adult*;Phytanic Acid Oxidase Deficiency, Adult Refsum Syndrome, Infantile*;Phytanic Acid Oxidase Deficiency, Infantile Rh C Genotyping Rh DGenotyping Rh E Genotyping Sex-Determining Region Y*; SRYSiemerling-Creutzfeldt Disease Spinal Muscular Atrophy Types I/II/III*;Kugelberg-Welander; SMA; Werdnig-Hoffmann Disease Spinocerebellar AtaxiaType VII*; Olivopontocerebellar Atrophy III; SCA7 Spinocerebellar AtaxiaType VI*; SCA6 Spinocerebellar Ataxia Type I*; OlivopontocerebellarAtrophy I; SCA1 Spinocerebellar Ataxia Type II*; OlivopontocerebellarAtrophy, Holguin; SCA2 Spinocerebellar Ataxia Type III*; Machado-JosephDisease; SCA3 Spinocerebellar Ataxia Type VIII*; SCA8 Tay-SachsDisease*; GM2 Gangliosidosis Thanatophoric Dysplasia Type I*

Thanatophoric Dysplasia Type II*; Cloverleaf Skull with ThanatophoricDysplasia;Thanatophoric Dysplasia with Kleeblattschaedel

Thrombosis Risk Factor (Factor V Leiden) Williams Syndrome XInactivation Studies Y Chromosome Detection/Molecular Genetics

Zellweger syndrome*; Cerebrohepatorenal Syndrome

Zygosity Testing*; Twinning Example 5 Site for Increasing Utilization ofGenetic Testing

This invention describes a site which enables individuals to selectgenetic test which includes a posting of genetic tests and informationconcerning said tests that may be accessed by an individual, enablesselection of specific genetic tests by an individual including methodsof payment, provides for the collection of samples from an individualand the distribution of an aliquot of the sample, the posting of theresults of the test in a private medical record, the posting ofmaterials for interpreting the results of a test and for geneticcounseling that may be accessed by an individual, and the posting ofprograms to aid the individual in the selection of genetic tests,interpreting test results, and genetic counseling that. An importantfeature of the site is that the posting of information for accessing,selecting, interpreting, and counseling and mechanisms for selecting,accessing, and paying are available in an integrated manner with thesteps of collecting, distributing, and storage or samples at a site onthe internet. Elements of a site with these features are illustrated inFIGS. 1-7.

1.-11. (canceled)
 12. A method of providing genetic testing services toan individual which is directly accessible by said individual through acomputer interface, said method comprising (i) posting a list of genetictests which can be run on a biological sample from said individual; (ii)providing first information concerning each of said genetic tests onsaid list; (iii) providing a mechanism for said individual to directlyselect at least one of said genetic tests by private communicationthrough the computer interface without intermediation of a healthcareprovider, wherein the genetic test selected by said individual isperformed on a biological sample and a result of said selected genetictest is obtained; (iv) displaying the result of said selected genetictest in readable form; (v) providing second information to assist ininterpreting said result of said selected genetic test; and (vi)providing third information to provide genetic counseling relating tothe result of said selected genetic test; wherein said individual hasdirect access to each of said first information, second information, andthird information without the intermediation of a health careprofessional; wherein said computer interface capable of executing acommunication program, and providing information necessary for providingthe genetic testing services, without intermediation of a healthcareprovider; and wherein said individual is a non-healthcare professional.13. The method of claim 12 wherein said method of providing genetictesting services is through an internet address.
 14. The method of claim12 wherein said mechanism for selecting further comprising a mechanismfor payment for said genetic test.
 15. The method of claim 13 furthercomprising a step of posting on said internet address a result of saidgenetic test.
 16. The method of claim 15 wherein said result isaccessible by said individual.
 17. The method of claim 13 wherein saidinternet address is protected by a password.
 18. The method of claim 14wherein said mechanism for selecting further comprising a mechanism forsaid individual to provide informed consent for said genetic test. 19.The method of claim 12 wherein said list of genetic tests comprises oneor more types of genetic tests selected from the group consisting ofgenetic tests for diagnosing a genetic disease, genetic testsdeterminative of multifactorial disease propensity, and genetic testspredictive of a therapeutic drug response.
 20. The method of claim 13wherein said mechanism for selecting is accessible and performable bysaid individual.
 21. The method of claim 20 wherein said mechanism forselecting further comprising a mechanism for payment for said genetictest.
 22. The method of claim 21 further comprising a step of posting onsaid internet address a result of said genetic test selected.
 23. Themethod of claim 22 wherein said result is accessible by said individual.24. The method of claim 23 wherein said internet address is protected bya password.
 25. The method of claim 20 wherein said mechanism forselecting further comprising a mechanism for said individual to provideinformed consent for said genetic test.
 26. The method of claim 13wherein said list of genetic tests comprises one or more types ofgenetic tests selected from the group consisting of genetic tests fordiagnosing a genetic disease, genetic tests determinative ofmultifactorial disease propensity, and genetic tests predicative of atherapeutic drug response.
 27. A method of providing genetic testingservices to an individual through a password protected computerinterface that is directly accessible by said individual, in anintegrated manner, the method comprising: (i) posting a list of genetictests which can be run on a biological sample from said individual; (ii)providing first information concerning each of said genetic tests onsaid list; (iii) providing a mechanism for said individual to directlyselect at least one of said genetic tests by private communicationwithout intermediation of a healthcare provider, wherein the genetictest selected by said individual is performed on a biological sample anda result of said selected genetic test is obtained, said mechanismaccessible and performable by said individual, and said mechanismincluding a means for payment for said genetic tests and a mechanism forsaid individual to provide informed consent for said genetic test; (iv)displaying the result of said selected genetic test in readable form,said result being accessible by said individual; (v) providing secondinformation to assist in interpreting the result of said selectedgenetic test; and (vi) providing third information to provide geneticcounseling relating to the result of said selected genetic test; whereinsaid individual has direct access to each of said first information,second information, and third information and said result of saidselected genetic test without the intermediation of a health careprofessional; and wherein said individual is a non-healthcareprofessional.
 28. The method of claim 27 wherein said list of genetictests comprises one or more types of genetic tests selected from thegroup consisting of genetic tests for diagnosing a genetic disease,genetic tests determinative of multifactorial disease propensity, andgenetic tests predictive of a therapeutic drug response.
 29. The methodof claim 12 wherein said providing genetic testing services isaccessible through a URL (Universal Record Locator).
 30. The method ofclaim 12 wherein said providing genetic testing services comprisesprivate communication over the internet.
 31. The method of claim 30wherein said private communication over the internet comprises email.32. The method of claim 12 wherein said method is provided on aninternet address and said result is also provided by email.
 33. A methodof providing genetic testing services to an individual comprising (a)providing to said individual through private communication from a serverto the individual (i) a list of genetic tests which can be run on abiological sample from said individual; (ii) first informationconcerning each of said genetic tests on said list; (iii) a mechanismfor said individual to directly select at least one of said genetictests; (b) wherein upon selection of the genetic test by saidindividual, the server orders from a genetic testing service theperforming of said selected genetic test on said sample (c) providing tosaid individual through private communication from a server (i) theresult of said selected genetic test in readable form; (ii) secondinformation to assist in interpreting said result of said selectedgenetic test; and (iii) third information to provide genetic counselingrelating to the result of said selected genetic test; wherein saidindividual directly accesses each of said first information, secondinformation, and third information without the intermediation of ahealth care professional; and wherein said individual is anon-healthcare professional.
 34. The method of claim 33, comprising (a)procuring from said individual a biological sample for genetic testing(b) providing to said individual through private communication from aserver to the individual (i) a list of genetic tests which can be run onsaid biological sample from said individual; (ii) first informationconcerning each of said genetic tests on said list; (iii) a mechanismfor said individual to directly select at least one of said genetictests; (c) wherein upon selection of the genetic test by saidindividual, the server orders from a genetic testing service theperforming of said selected genetic test on said sample (d) providing tosaid individual through private communication from the server (i) theresult of said selected genetic test in readable form; (ii) secondinformation to assist in interpreting said result of said selectedgenetic test; and (iii) third information to provide genetic counselingrelating to the result of said selected genetic test; wherein saidindividual directly accesses each of said first information, secondinformation, and third information without the intermediation of ahealth care professional; and wherein said individual is anon-healthcare professional.
 35. A method of providing genetic testingservices to an individual comprising (a) detecting the presence of saidindividual by entry of a password on a computer (b) providing throughprivate communication from a server to the individual on the computer(i) a list of genetic tests which can be run on a biological sample fromsaid individual; (ii) first information concerning each of said genetictests on said list; (iii) a mechanism for said individual to directlyselect at least one of said genetic tests (iv) a mechanism for paymentfor said genetic tests; and (v) a mechanism for said individual toprovide informed consent for said genetic test; (c) wherein uponselection of the genetic test by said individual, the provision of saidpayment, and provision of said informed consent, said server orders froma genetic testing service the performing of said selected genetic teston said sample (d) providing through private communication from a serverto the individual on the computer (i) the result of said selectedgenetic test in readable form; (ii) second information to assist ininterpreting the result of said selected genetic test; and (iii) thirdinformation to provide genetic counseling relating to the result of saidselected genetic test; wherein said individual has direct access to eachof said first information, second information, and third information andsaid result of said selected genetic test without the intermediation ofa health care professional; and wherein said individual is anon-healthcare professional.